The dystrophin gene has 79 exons. #ExonSkipping therapies aim to skip specific exons to help the body work around certain mutations. Genetic testing can identify which exons are affected and if this approach may apply.
Duchenne is part of the story, not the whole story.
Brantley was diagnosed with DMD at 4. #ExonSkipping therapies can help produce a usable form of dystrophin, slowing progression so patients can keep pursuing what they love.
Thanks to #Project Alive and the #HunterSyndrome community for a meaningful Building a Future Together Conference!
It was inspiring to connect with families, advocates and leaders in Costa Mesa and share conversations that help advance rare disease care and research.